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EPCAM Gene Mutations (Lynch Syndrome)

Learn about the cancer risks, screening, prevention and treatment options for people with Lynch syndrome due to an inherited EPCAM mutation. Stay up to date by signing up for our community newsletter.
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Information about Inherited Mutations 
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What is an mutation?

is a gene that helps repair damage to your . Inherited mutations in the gene cause . People with have an increased risk for several types of cancer. Other names for include:

  • Hereditary Nonpolyposis Colorectal Cancer ()
  • Muir-Torre syndrome, which refers to a subset of in which people have an increased risk of developing rare skin tumors.

Mutations in cause by affecting a nearby gene called , which is also linked to . Cancer risks and risk-management recommendations are similar for people with mutations in or

Which cancers are associated with an mutation?

People with an inherited  mutation have an increased risk for many cancers, especially of the large intestine (the colon and the rectum) and uterus (endometrium). Expert guidelines include estimates of the lifetime cancer risks for people with mutations. These are updated yearly based on new research. 

Does everyone with an mutation develop cancer?

Although the lifetime risk for cancer with an mutation is very high, not everyone with the mutation develops cancer. Following the guidelines for screening and prevention increases the chances of preventing cancer or catching it at its earliest and most treatable .

Can mutations skip a generation?

mutations are passed down from parents to children, but they do not skip generations. Each person with an mutation has a 50% chance of passing their mutation on to each of their children. Children who did not inherit their parent's mutation cannot pass the mutation to their children. 

People with an mutation who never develop cancer can still pass their mutation on to their children. A child who inherits their parent's mutation will be at increased risk for cancer. 

What can people with an mutation do?

People with an mutation have options for screening, prevention and treatment of . There are expert guidelines and clinical trials that focus on:

  • screening and early detection
  • risk-reduction
  • treatment 

There may be other medical concerns, including a rare childhood disease known as “constitutional (CMMRD),” which can happen in people who inherit a mutation in both copies of their gene. 

If you test positive for an mutation, you should inform your close blood relatives (first-, second-, and third-degree relatives) about your test results and encourage them to speak with a genetics expert. 

More detailed information for people with inherited mutations is highlighted below. 

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Share Your Test Results with Relatives  ›

Download our sample letter to help you share your EPCAM test results with relatives. 

More Information for People with Mutations

Cancer Risks

Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with an inherited EPCAM mutation. 

More info

Risk Management Options

Read about the latest expert guidelines for cancer screening and prevention for people with an EPCAM mutation. Learn about research studies enrolling high-risk patients.  

More info

Cancer Treatment Options

Tumor biomarker testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for an EPCAM mutation may have additional treatment or clinical trial options available to them. 

More info

Other Considerations

People who inherit a mutation in both copies of their EPCAM gene—one from each parent—have a rare disease known as  "constitutional mismatch repair deficiency." Learn additional information about inherited EPCAM mutations. 

More info

More Resources

Webinars on Lynch Syndrome

What's new for people with Lynch syndrome?

Spotlight on Hereditary Cancer Research

Last updated July 28, 2025